PRKAG2 non-truncating variants in ExAC

PRKAG2 gene summary
PRKAG2 variants in DCM, HCM

The table below lists the PRKAG2 non-truncating variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 151254294 c.1703C>T p.T568M missense 0.00009884●●●●●●
2. 151478480 c.224G>C p.G75A missense 0.00009808●●●●●●
3. 151478345 c.359G>A p.R120H missense 0.00008261●●●●●●
4. 151478279 c.425C>T p.T142I missense 0.00007434●●●●●●
5. 151478379 c.325T>G p.S109A missense 0.00006622●●●●●●
6. 151478502 c.202G>A p.G68S missense 0.00006602●●●●●●
7. 151372597 c.593C>G p.P198R missense 0.00005784●●●●●●
8. 151483576 c.166G>A p.G56R missense 0.00005281●●●●●●
9. 151478286 c.418C>T p.P140S missense 0.00004955●●●●●●
10. 151478391 c.313G>A p.V105M missense 0.00004150●●●●●●
11. 151372669 c.521C>T p.T174M missense 0.00004120●●●●●●
12. 151262815 c.1390G>A p.D464N missense 0.00004118●●●●●●
13. 151478249 c.455G>A p.R152H missense 0.00003309●●●●●●
14. 151478363 c.341C>T p.P114L missense 0.00003307●●●●●●
15. 151478358 c.346C>T p.R116C missense 0.00003305●●●●●●
16. 151478315 c.389C>A p.S130Y missense 0.00003303●●●●●●
17. 151292507 c.788G>A p.R263Q missense 0.00003303●●●●●●
18. 151372600 c.590C>T p.P197L missense 0.00003298●●●●●●
19. 151372705 c.485C>G p.S162C missense 0.00003298●●●●●●
20. 151372609 c.581C>T p.S194L missense 0.00003297●●●●●●
21. 151261273 c.1475T>A p.I492N missense 0.00003295●●●●●●
22. 151262938 c.1267C>A p.Q423K missense 0.00003295●●●●●●
23. 151257640 c.1648A>C p.I550L missense 0.00003295●●●●●●
24. 151262437 c.1432G>A p.V478I missense 0.00003068●●●●●●
25. 151273537 c.866T>C p.V289A missense 0.00002670●●●●●●
26. 151329205 c.704T>G p.L235R missense 0.00002524●●●●●●
27. 151573666 c.40G>C p.V14L missense 0.00002489●●●●●●
28. 151478250 c.454C>T p.R152C missense 0.00002481●●●●●●
29. 151478273 c.431C>T p.P144L missense 0.00002479●●●●●●
30. 151372606 c.584C>G p.S195C missense 0.00002473●●●●●●
31. 151372651 c.539A>G p.Y180C missense 0.00002472●●●●●●
32. 151372634 c.556C>T p.R186W missense 0.00002472●●●●●●
33. 151372676 c.514C>G p.Q172E missense 0.00002472●●●●●●
34. 151372636 c.554A>T p.E185V missense 0.00002472●●●●●●
35. 151262890 c.1315A>G p.I439V missense 0.00002471●●●●●●
36. 151483608 c.134T>A p.M45K missense 0.00002037●●●●●●
37. 151478451 c.253C>A p.P85T missense 0.00001911●●●●●●
38. 151372511 c.679A>G p.K227E missense 0.00001689●●●●●●
39. 151573603 c.103G>A p.V35M missense 0.00001666●●●●●●
40. 151292537 c.758T>C p.V253A missense 0.00001661●●●●●●
41. 151372555 c.635C>T p.P212L missense 0.00001656●●●●●●
42. 151478247 c.457T>C p.S153P missense 0.00001655●●●●●●
43. 151372558 c.632G>A p.S211N missense 0.00001655●●●●●●
44. 151478373 c.331C>G p.Q111E missense 0.00001654●●●●●●
45. 151478354 c.350C>T p.S117F missense 0.00001652●●●●●●
46. 151372573 c.617C>T p.P206L missense 0.00001652●●●●●●
47. 151372708 c.482C>T p.S161F missense 0.00001649●●●●●●
48. 151372649 c.541A>C p.K181Q missense 0.00001648●●●●●●
49. 151372628 c.562G>C p.E188Q missense 0.00001648●●●●●●
50. 151372633 c.557G>A p.R186Q missense 0.00001648●●●●●●
51. 151265876 c.1159G>A p.V387I missense 0.00001648●●●●●●
52. 151261240 c.1508A>G p.Q503R missense 0.00001647●●●●●●
53. 151262854 c.1351A>G p.I451V missense 0.00001647●●●●●●
54. 151261219 c.1529A>G p.K510R missense 0.00001647●●●●●●
55. 151262967 c.1238C>G p.S413C missense 0.00001647●●●●●●
56. 151262856 c.1349A>G p.N450S missense 0.00001647●●●●●●
57. 151261213 c.1535A>G p.N512S missense 0.00001647●●●●●●
58. 151478508 c.196C>T p.P66S missense 0.00001362●●●●●●
59. 151329218 c.691C>G p.L231V missense 0.00001279●●●●●●
60. 151329182 c.727C>G p.L243V missense 0.00001257●●●●●●
61. 151329188 c.721G>A p.G241S missense 0.00001253●●●●●●
62. 151329191 c.718G>A p.A240T missense 0.00001248●●●●●●
63. 151478495 c.209G>A p.G70D missense 0.00001230●●●●●●
64. 151483564 c.178T>C p.S60P missense 0.00001110●●●●●●
65. 151478480 c.224G>T p.G75V missense 0.00001090●●●●●●
66. 151483623 c.119T>A p.L40Q missense 0.00001052●●●●●●
67. 151483620 c.122G>A p.S41N missense 0.00001042●●●●●●
68. 151483611 c.131C>T p.A44V missense 0.00001022●●●●●●
69. 151483609 c.133A>G p.M45V missense 0.00001018●●●●●●
70. 151483591 c.151G>C p.D51H missense 0.00001017●●●●●●
71. 151483605 c.137C>A p.P46Q missense 0.00001013●●●●●●
72. 151478479 c.225_239delGTTCTTCTCCAGAGG p.Phe76_Gly80del inframe 0.00001010●●●●●●
73. 151478459 c.245A>G p.Q82R missense 0.00000999●●●●●●
74. 151478450 c.254C>A p.P85H missense 0.00000954●●●●●●
75. 151273465 c.938G>A p.S313N missense 0.00000897●●●●●●
76. 151273466 c.937A>C p.S313R missense 0.00000895●●●●●●
77. 151273468 c.935A>G p.Q312R missense 0.00000892●●●●●●
78. 151273538 c.865G>A p.V289I missense 0.00000891●●●●●●
79. 151273490 c.913C>G p.P305A missense 0.00000864●●●●●●
80. 151273498 c.905G>T p.R302L missense 0.00000862●●●●●●
81. 151273507 c.896A>G p.N299S missense 0.00000862●●●●●●
82. 151478409 c.295C>T p.P99S missense 0.00000842●●●●●●
83. 151372519 c.671C>G p.A224G missense 0.00000838●●●●●●
84. 151573598 c.108C>G p.H36Q missense 0.00000833●●●●●●
85. 151573697 c.9C>G p.S3R missense 0.00000833●●●●●●
86. 151573698 c.8G>T p.S3I missense 0.00000833●●●●●●
87. 151573615 c.91C>G p.R31G missense 0.00000832●●●●●●
88. 151267261 c.1102G>T p.A368S missense 0.00000832●●●●●●
89. 151478394 c.310A>G p.T104A missense 0.00000831●●●●●●
90. 151573639 c.67A>C p.K23Q missense 0.00000831●●●●●●
91. 151573680 c.26A>T p.K9M missense 0.00000831●●●●●●
92. 151272035 c.947G>T p.G316V missense 0.00000830●●●●●●
93. 151372549 c.641G>A p.R214K missense 0.00000830●●●●●●
94. 151573668 c.38A>G p.D13G missense 0.00000830●●●●●●
95. 151372548 c.642G>C p.R214S missense 0.00000830●●●●●●
96. 151272020 c.962C>T p.T321I missense 0.00000829●●●●●●
97. 151478384 c.320C>T p.P107L missense 0.00000829●●●●●●
98. 151478363 c.341C>G p.P114R missense 0.00000827●●●●●●
99. 151271979 c.1003A>G p.M335V missense 0.00000827●●●●●●
100. 151271985 c.997T>G p.S333A missense 0.00000827●●●●●●
101. 151372597 c.593C>T p.P198L missense 0.00000826●●●●●●
102. 151478276 c.428C>T p.S143L missense 0.00000826●●●●●●
103. 151292509 c.786G>A p.M262I missense 0.00000826●●●●●●
104. 151478342 c.362T>A p.M121K missense 0.00000826●●●●●●
105. 151478346 c.358C>T p.R120C missense 0.00000826●●●●●●
106. 151292511 c.784A>G p.M262V missense 0.00000826●●●●●●
107. 151478315 c.389C>T p.S130F missense 0.00000826●●●●●●
108. 151478343 c.361A>G p.M121V missense 0.00000826●●●●●●
109. 151478357 c.347G>A p.R116H missense 0.00000826●●●●●●
110. 151478343 c.361A>C p.M121L missense 0.00000826●●●●●●
111. 151478357 c.347G>T p.R116L missense 0.00000826●●●●●●
112. 151478268 c.436G>C p.G146R missense 0.00000826●●●●●●
113. 151478339 c.365G>A p.S122N missense 0.00000826●●●●●●
114. 151478309 c.395A>G p.K132R missense 0.00000826●●●●●●
115. 151269761 c.1040A>G p.E347G missense 0.00000826●●●●●●
116. 151265921 c.1114G>C p.D372H missense 0.00000825●●●●●●
117. 151265923 c.1112T>A p.F371Y missense 0.00000825●●●●●●
118. 151292488 c.807G>C p.K269N missense 0.00000825●●●●●●
119. 151257697 c.1591C>T p.R531W missense 0.00000824●●●●●●
120. 151257663 c.1625T>C p.V542A missense 0.00000824●●●●●●
121. 151254292 c.1705G>A p.E569K missense 0.00000824●●●●●●
122. 151262910 c.1295C>T p.T432M missense 0.00000824●●●●●●
123. 151261184 c.1564G>T p.D522Y missense 0.00000824●●●●●●
124. 151372615 c.575A>G p.Y192C missense 0.00000824●●●●●●
125. 151262839 c.1366C>G p.R456G missense 0.00000824●●●●●●
126. 151254318 c.1679G>C p.G560A missense 0.00000824●●●●●●
127. 151261259 c.1489G>T p.A497S missense 0.00000824●●●●●●
128. 151372697 c.493A>G p.T165A missense 0.00000824●●●●●●
129. 151261187 c.1561G>A p.V521M missense 0.00000824●●●●●●
130. 151254316 c.1681G>A p.A561T missense 0.00000824●●●●●●
131. 151254304 c.1693G>A p.E565K missense 0.00000824●●●●●●
132. 151372603 c.587C>T p.S196F missense 0.00000824●●●●●●
133. 151262881 c.1324G>A p.D442N missense 0.00000824●●●●●●
134. 151262841 c.1364G>A p.R455K missense 0.00000824●●●●●●
135. 151257664 c.1624G>T p.V542L missense 0.00000824●●●●●●
136. 151257628 c.1660C>G p.L554V missense 0.00000824●●●●●●
137. 151372628 c.562G>A p.E188K missense 0.00000824●●●●●●
138. 151254304 c.1693G>C p.E565Q missense 0.00000824●●●●●●
139. 151262847 c.1358T>C p.V453A missense 0.00000824●●●●●●
140. 151257675 c.1613C>A p.A538E missense 0.00000824●●●●●●
141. 151372619 c.571A>G p.I191V missense 0.00000824●●●●●●
142. 151262895 c.1310C>G p.A437G missense 0.00000824●●●●●●
143. 151372623 c.567T>G p.N189K missense 0.00000824●●●●●●
144. 151261213 c.1535A>T p.N512I missense 0.00000824●●●●●●
145. 151254316 c.1681G>C p.A561P missense 0.00000824●●●●●●
146. 151261223 c.1525G>T p.V509L missense 0.00000824●●●●●●
147. 151262950 c.1255G>A p.A419T missense 0.00000824●●●●●●
148. 151372690 c.500C>T p.T167I missense 0.00000824●●●●●●
149. 151262852 c.1353A>G p.I451M missense 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.